Linked Data
dbSNP Id:
rs745658629
ExAC:
16:226919 T / C
gnomAD v2:
16-226919-T-C
gnomAD v3:
16-176920-T-C
gnomAD v4:
16-176920-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176920T>C , CM000678.2:g.176920T>C | GRCh38 |
| NC_000016.9:g.226919T>C , CM000678.1:g.226919T>C | GRCh37 |
| NC_000016.8:g.166919T>C | NCBI36 |
| NG_000006.1:g.37783T>C | |
| NG_059186.1:g.5270T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.96-9T>C MANE Select | ENSP00000322421.5:n.96-9T>C | |
| ENST00000397797.1:c.-1-9T>C | ENSP00000380899.1:n.-1-9T>C | |
| ENST00000472694.1:n.223T>C | ||
| ENST00000487791.1:n.65-9T>C | ||
| NM_000558.4:c.96-9T>C | NP_000549.1:n.96-9T>C | |
| NM_000558.5:c.96-9T>C MANE Select | NP_000549.1:n.96-9T>C |